Genetic medicine is an evolving area of research, knowledge, and, most importantly, for the majority of you reading this newsletter, clinical applications. At Insight, we’ve taken the position that we can add value to the work of physicians and health care providers by persistently surveying the landscape of this evolution and making the best judgments we can regarding both standards of care and leading edge developments both in discussion with you and on behalf of your patients.
The advent of multi-gene cancer panel testing has dramatically altered the landscape of germline cancer genetic testing. An increasing number of patients are being tested for genes beyond just high-risk, well-established culprits such as BRCA1/2 and the mismatch repair genes associated with Lynch syndrome. While broadening the scope of genetic testing allows for the increased detection of mutations overall, it is important to consider the value this information may or may not offer to individual patients as well as the possible limitations and drawbacks of expanded testing.
As medical providers, you are constantly bombarded with messages from laboratories trying to sell you products, promising their technology is second to none and guaranteeing they can take care of all your patients. But, professional experience has revealed to you that is not the case. We hear these same messages at Insight with the added benefit of an experience team of genetic professionals to evaluate the technology and determine what tests make the most sense for our patient population.
A recent committee option just issued by the American College of Obstetricians and Gynecologists endorses, for the first time, expanded carrier screening as an acceptable strategy for preconception and prenatal carrier screening.
This summer has brought several developments and activities in prenatal and carrier screening to the ever evolving standards and new practices relevant to our work with you.